R58L (p.Arg58Leu) variant of EPAS1 (Q99814)
R58L (p.Arg58Leu) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R58L (p.Arg58Leu) variant details
- p.Arg58Leu
- gnomAD 2-46347019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.66
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available